Detalhe da pesquisa
1.
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Brain
; 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38696726
2.
Hypersensitivity infusion-associated reactions induced by enzyme replacement therapy in a cohort of patients with late-onset Pompe disease: An experience from the French Pompe Registry.
Mol Genet Metab
; 139(3): 107611, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37285781
3.
Determinants of diaphragm inspiratory motion, diaphragm thickening, and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophy.
Muscle Nerve
; 65(1): 89-95, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34618930
4.
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data.
Eur Heart J
; 42(20): 1976-1984, 2021 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33748842
5.
Deep phenotyping of an international series of patients with late-onset dysferlinopathy.
Eur J Neurol
; 28(6): 2092-2102, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33715265
6.
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
Brain
; 143(2): 452-466, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32040565
7.
Quantitative Muscle MRI Depicts Increased Muscle Mass after a Behavioral Change in Myotonic Dystrophy Type 1.
Radiology
; 297(1): 132-142, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32808888
8.
Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation.
Muscle Nerve
; 61(4): 491-495, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31944327
9.
Improved mobility with metformin in patients with myotonic dystrophy type 1: a randomized controlled trial.
Brain
; 141(10): 2855-2865, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30169600
10.
Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism.
Hum Mutat
; 39(7): 970-982, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29664219
11.
Muscle ischaemia associated with NXP2 autoantibodies: a severe subtype of juvenile dermatomyositis.
Rheumatology (Oxford)
; 57(5): 873-879, 2018 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29474663
12.
The quality of life in genetic neuromuscular disease questionnaire: Rasch validation of the French version.
Muscle Nerve
; 56(6): 1085-1091, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28164330
13.
Reply: Could weight loss contribute to the improved mobility with metformin in patients with myotonic dystrophy type 1?
Brain
; 142(2): e6, 2019 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30615109
14.
Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular disease.
Qual Life Res
; 24(11): 2615-23, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26141500
15.
Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus.
PLoS Genet
; 8(11): e1003043, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23209425
16.
High Risk of Fatal and Nonfatal Venous Thromboembolism in Myotonic Dystrophy.
Circulation
; 138(11): 1169-1171, 2018 09 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30354391
17.
Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour.
Brain
; 136(Pt 3): 957-70, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23404338
18.
Expert opinion on mexiletine treatment in adult patients with myotonic dystrophy.
Arch Cardiovasc Dis
; 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38677940
19.
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders.
Orphanet J Rare Dis
; 19(1): 66, 2024 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38355534
20.
Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study.
Mol Genet Metab
; 108(2): 125-31, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23333026